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Research Topic : upstream open reading frames
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  • Funded Activity

    The Contribution Of Upstream Open Reading Frames To The Eukaryotic Proteome

    Funder
    National Health and Medical Research Council
    Funding Amount
    $197,911.00
    Summary
    This project will investigate the novel idea that genomes of complex organisms (including human) 'double-dip' with many genes containing information for more than one protein. It will also examine if these small supernumary proteins have cell regulatory functions. If proved, it would significantly alter current views on the information content of higher vertebrate genomes. An understanding of the roles of these novel protein sequences may result in the development of new drugs.
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    Funded Activity

    Molecular Genetics Of Dyslexia: A Component Processes Approach

    Funder
    National Health and Medical Research Council
    Funding Amount
    $348,960.00
    Summary
    With the advent of the human genome project, Australian researchers into serious childhood reading disorders are now in a position to make breakthroughs in understanding the complex linkages between genes and dyslexia. It is widely acknowledged that previous studies on the genetics of dyslexia have been limited by their failure to distinguish the different component processes in reading and the different patterns of dyslexia that they produce, and by being unable to look widely across the human .... With the advent of the human genome project, Australian researchers into serious childhood reading disorders are now in a position to make breakthroughs in understanding the complex linkages between genes and dyslexia. It is widely acknowledged that previous studies on the genetics of dyslexia have been limited by their failure to distinguish the different component processes in reading and the different patterns of dyslexia that they produce, and by being unable to look widely across the human genome. This new research addresses these two problems. Firstly, the researchers have developed a computational model of reading that identifies around a dozen basic mental processes which are recruited during skilled reading. This model provides the extremely precise phenotypes required for genetic research. Secondly, the researchers will take advantage of both very high density scans within known regions of interest on chromosomes 2,6, and 15, as well as a genome-wide scan of 400 markers small elements of DNA whose position within the genome is known, thus allowing researchers to narrow-down the location of new genes for reading. The research thus promises not only to refine our understanding of the basis for three previous genetic markers of dyslexia, but also to potentially uncover new genes related to specific elements of reading across the genome. The project pools the resources of the Macquarie Centre for Cognitive Science, the Australian Genome Research Facility, and The Garvan Institute and the researchers hope that the work will lead eventually to identifying the genes for dyslexia and to improved diagnosis and treatment of reading disorders in Australia.
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    Funded Activity

    Genetics Of An Autosomal Dominant Low Tension Glaucome Pedigree

    Funder
    National Health and Medical Research Council
    Funding Amount
    $88,234.00
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    Funded Activity

    Auditory Processing Deficits In Specific Language Impairment And Specific Reading Disability: Their Effects And Treatmen

    Funder
    National Health and Medical Research Council
    Funding Amount
    $167,250.00
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    Funded Activity

    Hyperactivity In Twins

    Funder
    National Health and Medical Research Council
    Funding Amount
    $183,568.00
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    Funded Activity

    Reading Performance Of Patients With Low Vision

    Funder
    National Health and Medical Research Council
    Funding Amount
    $74,836.00
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    Funded Activity

    Vision Requirements For Reading

    Funder
    National Health and Medical Research Council
    Funding Amount
    $152,743.00
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    Funded Activity

    Stem Cell Bioinformatics For Eye Research: Mapping An Integrative Network Model Of Glaucoma

    Funder
    National Health and Medical Research Council
    Funding Amount
    $335,292.00
    Summary
    Biology has become data-driven, with a huge amount of data available but not enough researchers with bioinformatics skills to analyse it. By studying genetic architecture of eye cells generated from induced pluripotent stem cells of individuals with and without glaucoma, I aim to contribute to a better understanding of the underlying causes of glaucoma and equip myself with new bioinformatics skills to utilise in future eye research in Australia.
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    Funded Activity

    The Rane And Spain Routes In The Brain: Functional Studies And Remediation In Dyslexia Subtypes.

    Funder
    National Health and Medical Research Council
    Funding Amount
    $374,426.00
    Summary
    According to a recent DEST report a disturbingly high number of Australian school children are failing to meet a minimum acceptable standard in literacy . Failure to reach these standards is associated with poorer outcomes in mental health and socioeconomic status, greater representation among the prison population and with failure to achieve to true ability. Further, failure to correct these problems may well result in transmission of the problems associated with failed literacy into the next g .... According to a recent DEST report a disturbingly high number of Australian school children are failing to meet a minimum acceptable standard in literacy . Failure to reach these standards is associated with poorer outcomes in mental health and socioeconomic status, greater representation among the prison population and with failure to achieve to true ability. Further, failure to correct these problems may well result in transmission of the problems associated with failed literacy into the next generation. Despite the obvious immense social and personal ramifications and cost, literacy instruction for adults continues to lack a theoretical and research based approach . It is plain that improving population literacy would have significant benefits and it is also plain that early detection, intervention and remediation is desirable. This project brings to bear on these important aims current expertise in the nature of reading, how children learn to read and why some have so much difficulty in doing so, and techniques for determining the neural substrates of the mechanisms involved in reading and learning to read. We will subdivide child readers on the basis of their ability to read words using the letter to sound route or dictionary look-up route. We will use magnetic resonance imaging and spectroscopy to examine which parts of the brain are disrupted and-or disconnected when ability to read in either of these two routes is poor. We will then remediate these poor readers using targetted remediation therapy and re-image them to see whether remediation has altered the way the brain reads.
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    Funded Activity

    Auditory Processing Deficits In Specific Language Impairment And Specific Reading Disability:Their Effects And Treatment

    Funder
    National Health and Medical Research Council
    Funding Amount
    $314,250.00
    Summary
    One possible cause of specific language impairment (SLI) and specific reading disability (SRD; commonly known as dyslexia) is an inability to discriminate between sounds. Such an impairment could affect the ability to discriminate between simple speech sounds (phonemes) which are the basic building blocks for developing spoken language and reading skills. How many children with SLI or SRD have poor sound discrimination? What pattern of spoken language and reading impairments do these children ha .... One possible cause of specific language impairment (SLI) and specific reading disability (SRD; commonly known as dyslexia) is an inability to discriminate between sounds. Such an impairment could affect the ability to discriminate between simple speech sounds (phonemes) which are the basic building blocks for developing spoken language and reading skills. How many children with SLI or SRD have poor sound discrimination? What pattern of spoken language and reading impairments do these children have as a result of this impairment? Can poor sound discrimination be fixed? If it can, does it improve spoken language and reading impairments? And if it does, does it have an immediate effect or does it take some time to make a difference? These are some of the questions that will be addressed by this research. The answers will help us develop a training program that focuses specifically on improving the sound discrimination abilities of children who really need it. This will be a more efficient and inexpensive (if not free) than the Fast ForWord program that trains multiple non-verbal and verbal processing abilities regardless of whether a child has an impairment in all (or any) of these abilities and is therefore time consuming (approximately 80 hours) and expensive (approximately $AUD2000). The data will also help up better identify the spoken and written language profiles that characterise children who have sound discrimination deficits so we can better predict whether they would benefit from training programs such as Fast ForWord. And the data will tell use whether impaired sound discrimination can be used to predict whether infants might be at risk for later spoken language and reading problems.
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